Variant report

Variant	rs2113426
Chromosome Location	chr7:137442500-137442501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137429891..137431516-chr7:137441262..137442880,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10261368	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10277480	0.84[CEU][hapmap]
rs13221354	0.96[CEU][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13235694	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1963844	0.80[ASN][1000 genomes]
rs2009990	0.84[CEU][hapmap];0.92[CHB][hapmap];0.83[GIH][hapmap];0.81[ASN][1000 genomes]
rs2113427	0.92[CEU][hapmap]
rs2351856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3778810	0.85[CEU][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap]
rs3778811	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3778812	0.85[CEU][hapmap];0.80[GIH][hapmap]
rs3778813	0.85[CEU][hapmap]
rs3778815	0.85[CEU][hapmap]
rs3800654	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3800659	0.88[CEU][hapmap]
rs3800660	0.88[CEU][hapmap]
rs57370627	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6467717	0.80[CEU][hapmap]
rs73152535	0.91[EUR][1000 genomes]
rs7797147	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2113426	LRGUK	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137437800-137442600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:137439000-137442600	Enhancers	Osteobl	bone
3	chr7:137439400-137444400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:137439400-137444600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:137439600-137444600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:137439600-137445200	Weak transcription	Brain Anterior Caudate	brain
7	chr7:137440200-137444600	Weak transcription	Fetal Brain Female	brain
8	chr7:137440400-137442600	Enhancers	HSMM	muscle
9	chr7:137440600-137444600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:137440600-137453200	Weak transcription	Aorta	Aorta
11	chr7:137441000-137444600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:137441000-137464400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:137441200-137443800	Weak transcription	Fetal Brain Male	brain
14	chr7:137441200-137444600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:137441200-137444600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:137441400-137442600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:137441600-137443800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:137441600-137445200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:137441800-137442800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:137441800-137444600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:137442200-137442600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:137442200-137444000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:137442200-137453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:137442400-137444200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:137442400-137444400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:137442400-137451000	Weak transcription	HSMMtube	muscle
27	chr7:137442400-137453000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:137442400-137453200	Weak transcription	NH-A	brain

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